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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ichthyosis Congenital, LI associated (TGM1) Thick, large, darkbrown scaly body Autosomal Recessive 14q11 Missense TGM1 1363T>C Trp455Arg Amino Acid Substitution 0/Ullah et al., 2015